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FLASH GENE
Symbol ITPR2 contributors: mct/npt - updated : 25-05-2016
HGNC name inositol 1,4,5-triphosphate receptor, type 2
HGNC id 6181
Corresponding disease
IANHI isolated anhidrosis
Location 12p11.23      Physical location : 26.488.286 - 26.986.131
Synonym name
  • IP3 receptor isoform 2
  • type 2 InsP3 receptor
  • cilia and flagella associated protein 48
    • Synonym symbol(s) IP3R2, InsP3R2, ANHD, CFAP48,
    DNA
    TYPE functioning gene
    STRUCTURE 497.85 kb     57 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    57 - 12568 308 2701 - 2015 25499268
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestive    predominantly Homo sapiens
     liver   highly
    Reproductivefemale systemuterus  highly
     female systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • a N terminal cytoplasmic ligand binding domain
  • linked by a modulatory domain to a channel forming hydrophobic domain
  • made of six membrane-spanning segments near the C terminus
  • five MIR domains
  • a central transducing/modulatory domain,
  • a C-terminal channel domain
    • HOMOLOGY
    Homologene
    FAMILY
  • INSP3 receptor family
    • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • coexpressed with RYR3
  • concentrated in the vicinity of the node, and the outer Schwann cell cytoplasm similar to the Kv1.5 potassium channel
  • located on the endoplasmic reticulum (ER)
    • basic FUNCTION
  • inositol 1,4,5-triphosphate receptor, involved in Ca2+ mobilization from the endoplastic reticulum
  • required for long lasting, regular Ca++ oscillations
  • calcium signaling
  • phosphoregulation of ITPR2 results in subtype-specific effects and may play a role in the specificity of calcium signals by 'shaping' the spatio-temporal profile of the response (Yule 2003)
  • its apical concentration is essential for the formation of Ca(2+) waves in hepatocytes (Hernandez 2007)
  • pericanalicular calcium signaling mediated by ITPR2 plays an important role in maintaining bile salt secretion through posttranslational regulation of ABCB11, suggesting that loss or redistribution of ITPR2 may contribute to the pathophysiology of intrahepatic cholestasis
  • modulates apical acinar cell Ca(2+) signals and pancreatic enzyme secretion
  • functional role of calcium release by the ITPR2 channel and its subsequent accumulation in the mitochondria
  • ITPR2, ITPR3 are essential for tear secretion in both parasympathetic and sympathetic pathways
  • key regulator for the activity of calcium ion transmembrane transportation, which plays a critical role in cell cycle and proliferation
  • leaky RYR2, but not ITPR2, channels cause mitochondrial Ca2+ overload and dysfunction in heart failure
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • constituent of heterotetrameric channel with ITPR1 and ITPR3
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITPR1
  • ITPR3
  • ITPR1, ITPR2 enhanced gluconeogenic gene expression by promoting the calcineurin-mediated dephosphorylation of CRTC2
    • cell & other
    REGULATION
    Other transcriptionally regulated during myelopoiesis target of EVI-1 and EVI1-VP16 fusion gene
    highly sensitive to IP3 oscillations
    ASSOCIATED DISORDERS
    corresponding disease(s) IANHI
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    expression was greater in the peripheral blood of ALS patients (van Es 2007)
    constitutional       loss of function
    loss of ITPR2-mediated Ca2+ release causes isolated anhidrosis in humans
    constitutional       loss of function
    known to mediate endoplasmic reticulum (ER) calcium release, as well as loss of MCU, necessary for mitochondrial calcium uptake, enable escape from oncogene-induced senescence (OIS)
    Susceptibility to amyotrophic lateral sclerosis
    Variant & Polymorphism variant increasing the risk of ALS (Dupre 2009)
    Candidate gene
    Marker
  • is a novel biomarker for worse prognosis in cytogenetically normal acute myeloid leukemia
    • Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    specific ITPR2 inhibitors have the potential to reduce sweat production in hyperhidrosis
    ANIMAL & CELL MODELS
  • Itpr2-/- mice exhibited a marked reduction in sweat secretion, and evaluation of sweat glands from Itpr2-/- animals revealed a decrease in Ca2+ response compared with controls